نتایج جستجو برای: type 1 tyrosinemia
تعداد نتایج: 3647237 فیلتر نتایج به سال:
by a gas-liquid chromatographic method. J. Lab. Clin. Med., 74:185, 1969. 22. Kang, E. S., and Gerald, P. S. : Hereditary tyrosinemia and abnormal pvrrole metabolism. J. Pediat., 77:397, 1970. 23. Gentz, J., Johansson, S., Lindblad, B., Lindstedt, S., and Zetterstr#{246}m, R. : Excretion of daminolevulinic acid in hereditary tyrosinemia. Clin. Chim. Acta, 23:257, 1969. 24. Fellman, J. H., Vanbe...
inborn errors of amino-acids metabolism and other inherited mendeliandisorders are common in the middleeast. the number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. the aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (pku), tyrosinemia, and maple syrup...
Hereditary tyrosinemia type 1 (HT1) is a severe human autosomal recessive disorder caused by the deficiency of fumarylacetoacetate hydroxylase (FAH), an enzyme catalyzing the last step in the tyrosine degradation pathway. Lack of FAH causes accumulation of toxic metabolites (fumarylacetoacetate and succinylacetone) in blood and tissues, ultimately resulting in severe liver and kidney damage wit...
BACKGROUND Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and kidney dysfunction. Treatment with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and diet has diminished these problems, but recent data indicate that HT1 patien...
BACKGROUND Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at an asymptomatic stage. Newborn screening allows for earlier identification, but there is uncertainty rega...
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